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{
"count": 220249,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1410",
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"results": [
{
"created": "2021-02-13T22:02:46.403599+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T22:00:29.596319+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHMP1A as ready",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T22:00:29.585852+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp1a has been classified as Red List (Low Evidence).",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T22:00:26.530159+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:59:57.822292+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHMP1A were set to ",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:59:21.526136+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:58:54.288310+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHMP1A as Red List (low evidence)",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:58:54.277984+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp1a has been classified as Red List (Low Evidence).",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:58:24.562793+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:57:31.833794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHMP1A as ready",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:57:31.823628+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp1a has been classified as Green List (High Evidence).",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:57:23.859059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:57:02.193692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHMP1A were set to ",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:56:42.380191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:56:22.610623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:53:10.929546+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHMP1A as ready",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:53:10.921107+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp1a has been classified as Green List (High Evidence).",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:53:08.087888+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:52:45.050243+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHMP1A were set to ",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:51:55.652340+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:51:27.009304+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23023333; Phenotypes: Pontocerebellar hypoplasia, type 8, MIM# 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHMP1A",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:26:09.170496+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:26:09.157816+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Green List (High Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:26:06.945067+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from to Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:25:43.773481+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASK was changed from Unknown to Other",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:25:13.352536+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; Mode of inheritance: Other",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:24:24.541096+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRF1 as ready",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:24:24.531989+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brf1 has been classified as Green List (High Evidence).",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:24:20.219044+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRF1 were changed from to Cerebellofaciodental syndrome, MIM# 616202",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:23:54.482779+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRF1 were set to ",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:23:23.536285+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:22:50.466558+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:22:14.099286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRF1 as ready",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:22:14.088250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brf1 has been classified as Green List (High Evidence).",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:22:04.439065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRF1 were changed from to Cerebellofaciodental syndrome, MIM# 616202",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:21:46.018639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRF1 were set to ",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:21:26.787174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:21:07.179832+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:20:12.890780+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRF1 as ready",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:20:12.879756+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brf1 has been classified as Green List (High Evidence).",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:20:09.751195+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRF1 were changed from to Cerebellofaciodental syndrome, MIM# 616202",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:19:45.424326+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRF1 were set to ",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:19:15.819024+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T21:18:42.813152+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:25:01.074731+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHODH as ready",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:25:01.062806+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhodh has been classified as Green List (High Evidence).",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:24:58.135424+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHODH were changed from POADS = MILLER; POSTAXIAL ACROFACIAL DYSOSTOSIS to Miller syndrome, MIM# 263750",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:24:30.494603+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHODH were set to ",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:23:19.679771+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:22:40.763091+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHODH as ready",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:22:40.751540+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhodh has been classified as Green List (High Evidence).",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:22:25.826109+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHODH were changed from to Miller syndrome, MIM# 263750",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:22:02.031156+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHODH were set to ",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:21:26.967986+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:20:57.869160+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:20:17.240665+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHODH as ready",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:20:17.230181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhodh has been classified as Green List (High Evidence).",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:20:07.673302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHODH were changed from to Miller syndrome, MIM# 263750",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:19:45.376085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHODH were set to ",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:19:16.501313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:18:57.280924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:18:02.437567+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHODH as ready",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:18:02.426834+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhodh has been classified as Green List (High Evidence).",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:17:59.797535+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHODH were changed from to Miller syndrome, MIM# 263750",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:17:32.381527+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHODH were set to ",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:17:04.010430+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:16:13.728302+11:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DHODH: Rating: GREEN; Mode of pathogenicity: None; Publications: 19915526, 20220176, 33262786, 27370710; Phenotypes: Miller syndrome, MIM# 263750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHODH",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:12:32.218383+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGL as ready",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:12:32.206830+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agl has been classified as Green List (High Evidence).",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:12:29.700460+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa and IIIb, MIM# 232400",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:11:57.270512+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:11:20.789775+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:08:23.690161+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-13T20:07:45.523418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB4 as ready",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:07:45.515402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb4 has been classified as Green List (High Evidence).",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:07:37.249423+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:07:16.966129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGB4 were set to ",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:06:55.838393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGB4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:06:36.995555+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11328943, 9670011, 33225458, 30079450, 29380424, 29198538, 28557647; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:05:26.399960+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB4 as ready",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:05:26.388339+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb4 has been classified as Green List (High Evidence).",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:05:22.522669+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:04:52.100782+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGB4 were set to ",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:04:17.951361+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGB4 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T20:03:44.656035+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11328943, 9670011, 33225458, 30079450, 29380424, 29198538, 28557647; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:59:31.889535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA3 as ready",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:59:31.879056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama3 has been classified as Green List (High Evidence).",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:59:19.111289+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA3 were changed from to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:59:00.366242+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA3 were set to ",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:58:39.673539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:58:13.069499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, generalized atrophic benign, MIM# 226650, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:57:21.803614+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA3 as ready",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:57:21.795698+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama3 has been classified as Green List (High Evidence).",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:57:18.519482+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA3 were changed from to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:56:54.527647+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA3 were set to ",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:56:24.579069+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T19:55:54.636197+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7633458, 8530087, 11810295, 10366601; Phenotypes: Epidermolysis bullosa, generalized atrophic benign, MIM# 226650, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2021-02-13T18:28:32.914440+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMB3 as ready",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-02-13T18:28:32.903305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamb3 has been classified as Green List (High Evidence).",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2021-02-13T18:28:25.751995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMB3 were changed from to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650",
"entity_name": "LAMB3",
"entity_type": "gene"
}
]
}